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International Journal of Hematology

Open Access 27-09-2024 | Infertility | Review Article

Relationship between hemoglobinopathies and male infertility: a scoping review

Authors: Abdullah M. Al-Jubouri, Ahmed Eliwa, Yunes Haithm, Noof Al-Qahtani, Lolwa Jolo, Mohamed Yassin

Published in: International Journal of Hematology

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Abstract

Infertility is a common issue that threatens couples worldwide. Infertility can result from the male or female partner alone, or both partners. It can be due to multiple factors related to the patient’s overall health or lifestyle. Causes related to patient health can be systemic or related to gonadal dysfunction. One of the systematic causes can be hematological. The two most common hemoglobinopathies that are thought to cause infertility, especially male infertility, are sickle cell disease (SCD) and thalassemia major (TM). These two hemoglobinopathies cause male infertility through pathophysiological alterations. Specifically, they alter the oxygen carrying ability of red blood cells (RBCs), causing tissue hypoxia that affects the normal physiological process of spermatogenesis, eventually inducing infertility. Semen analyses and other systemic blood testing can be used to investigate male infertility. Both hemoglobinopathies can be helped by blood transfusions, which can then alleviate male infertility. This paper aims to explore the relationship between hemoglobinopathies (SCD and TM) and their role in contributing to male infertility, in addition to the role of blood transfusions in addressing male infertility by correcting the root cause.
Literature
1.
Practice Committee of the American Society for Reproductive Medicine. Definitions of infertility and recurrent pregnancy loss: a committee opinion. Fertil Steril. 2020;113(3):533–5.CrossRef
2.
De Berardis D, et al. Psychopathology, emotional aspects and psychological counselling in infertility: a review. Clin Ter. 2014;165(3):163–9.PubMed
3.
4.
Benksim A, et al. Difference between primary and secondary infertility in Morocco: frequencies and associated factors. Int J Fertil Steril. 2018;12(2):142–6.PubMedPubMedCentral
5.
6.
7.
8.
Kasman AM, Del Giudice F, Eisenberg ML. New insights to guide patient care: the bidirectional relationship between male infertility and male health. Fertil Steril. 2020;113(3):469–77.PubMedCrossRef
9.
Brugo-Olmedo S, Chillik C, Kopelman S. Definition and causes of infertility. Reprod Biomed Online. 2001;2(1):41–53.PubMedCrossRef
10.
11.
Berthaut I, et al. Influence of sickle cell disease and treatment with hydroxyurea on sperm parameters and fertility of human males. Haematologica. 2008;93(7):988–93.PubMedCrossRef
12.
De Sanctis V, et al. Gonadal dysfunction in adult male patients with thalassemia major: an update for clinicians caring for thalassemia. Expert Rev Hematol. 2017;10(12):1095–106.PubMedCrossRef
13.
Bomhard EM, Gelbke HP. Hypoxaemia affects male reproduction: a case study of how to differentiate between primary and secondary hypoxic testicular toxicity due to chemical exposure. Arch Toxicol. 2013;87(7):1201–18.PubMedCrossRef
14.
Al-Zuhairy TNA, Al-Ali ZAJR. Evaluation of reproductive hormones in patients with β-thalassemia major in Misan Province, Iraq. Med-Legal Update. 2020;20(2):274–9.
15.
Huang AW, Muneyyirci-Delale O. Reproductive endocrine issues in men with sickle cell anemia. Andrology. 2017;5(4):679–90.PubMedCrossRef
16.
Soliman AT, et al. Does blood transfusion affect pituitary gonadal axis and sperm parameters in young males with sickle cell disease? Indian J Endocrinol Metabol. 2013;17(6):962.CrossRef
17.
Khan, M.S., et al., Simultaneous analysis of the three hormones involved in spermatogenesis and their interrelation ratios. Pakistan Journal of Pharmaceutical Sciences, 2008. 21(4).
18.
Soliman A, Yassin M, De Sanctis V. Intravenous iron replacement therapy in eugonadal males with iron-deficiency anemia: effects on pituitary gonadal axis and sperm parameters—a pilot study. Indian J Endocrinol Metabol. 2014;18(3):310.CrossRef
19.
Soliman A, et al. Acute effects of blood transfusion on pituitary gonadal axis and sperm parameters in adolescents and young men with thalassemia major: a pilot study. Fertil Steril. 2012;98(3):638–43.PubMedCrossRef
20.
21.
Thein SL. Genetic basis and genetic modifiers of β-thalassemia and sickle cell disease. In: Malik P, Tisdale J, editors. Gene and cell therapies for beta-globinopathies. New York: Springer; 2017. p. 27–57.CrossRef
22.
Sundd P, Gladwin MT, Novelli EM. Pathophysiology of sickle cell disease. Annu Rev Pathol. 2019;14:263–92.PubMedCrossRef
23.
24.
Kuypers FA. Hemoglobin s polymerization and red cell membrane changes. Hematol Oncol Clin North Am. 2014;28(2):155–79.PubMedCrossRef
25.
Booth C, Inusa B, Obaro SK. Infection in sickle cell disease: a review. Int J Infect Dis. 2010;14(1):e2–12.PubMedCrossRef
26.
Kato GJ. Priapism in sickle-cell disease: a hematologist’s perspective. J Sex Med. 2012;9(1):70–8.PubMedCrossRef
27.
Rogers ZR. Priapism in sickle cell disease. Hematol/Oncol Clin. 2005;19(5):917–28.CrossRef
28.
Houwing ME, et al. Sickle cell disease: clinical presentation and management of a global health challenge. Blood Rev. 2019;37: 100580.PubMedCrossRef
29.
Olujohungbe A, Burnett AL. How I manage priapism due to sickle cell disease. Br J Haematol. 2013;160(6):754–65.PubMedCrossRef
30.
Burnett AL, Bivalacqua TJ. Priapism: current principles and practice. Urol Clin North Am. 2007;34(4):631–42.PubMedCrossRef
31.
Gaudio A, et al. Pathogenesis of Thalassemia major-associated osteoporosis: a review with insights from clinical experience. J Clin Res Pediatr Endocrinol. 2019;11(2):110–7.PubMedPubMedCentralCrossRef
32.
33.
34.
Farid Y, Bowman NS, Lecat P. Biochemistry, hemoglobin synthesis. In: StatPearls. Treasure Island (FL): StatPearls; 2023.
35.
Aksoy C, et al. Bone marrow mesenchymal stem cells in patients with beta thalassemia major: molecular analysis with attenuated total reflection-Fourier transform infrared spectroscopy study as a novel method. Stem Cells Dev. 2012;21(11):2000–11.PubMedCrossRef
36.
37.
Tarim HS, Oz F. Thalassemia major and associated psychosocial problems: a narrative review. Iran J Public Health. 2022;51(1):12–8.PubMedPubMedCentral
38.
Faranoush M, et al. Complications in patients with transfusion dependent thalassemia: a descriptive cross-sectional study. Health Sci Rep. 2023;6(10): e1624.PubMedPubMedCentralCrossRef
39.
Weatherall DJJ. The definition and epidemiology of non-transfusion-dependent thalassemia. Blood Rev. 2012;26:S3–6.PubMedCrossRef
40.
Musicki B, Burnett AL. Testosterone deficiency in sickle cell disease: recognition and remediation. Front Endocrinol (Lausanne). 2022;13: 892184.PubMedCrossRef
41.
42.
Oyedokun PA, et al. Impact of hypoxia on male reproductive functions. Mol Cell Biochem. 2023;478(4):875–85.PubMedCrossRef
43.
44.
Jensen FB. The dual roles of red blood cells in tissue oxygen delivery: oxygen carriers and regulators of local blood flow. J Exp Biol. 2009;212(Pt 21):3387–93.PubMedCrossRef
45.
George-Gay B, Parker K. Understanding the complete blood count with differential. J Perianesth Nurs. 2003;18(2):96–114.PubMedCrossRef
46.
47.
Fujii J, Imai H. Redox reactions in mammalian spermatogenesis and the potential targets of reactive oxygen species under oxidative stress. Spermatogenesis. 2014;4(2): e979108.PubMedPubMedCentralCrossRef
48.
Okumura A, et al. Changes in male reproductive function after high altitude mountaineering. High Alt Med Biol. 2003;4(3):349–53.PubMedCrossRef
49.
He J, et al. Exposure to hypoxia at high altitude (5380 m) for 1 year induces reversible effects on semen quality and serum reproductive hormone levels in young male adults. High Alt Med Biol. 2015;16(3):216–22.PubMedCrossRef
50.
Tremellen K. Oxidative stress and male infertility: a clinical perspective. Hum Reprod Update. 2008;14(3):243–58.PubMedCrossRef
51.
Padron OF, et al. Seminal reactive oxygen species and sperm motility and morphology in men with spinal cord injury. Fertil Steril. 1997;67(6):1115–20.PubMedCrossRef
52.
Alvarez JG, Storey BT. Differential incorporation of fatty acids into and peroxidative loss of fatty acids from phospholipids of human spermatozoa. Mol Reprod Dev. 1995;42(3):334–46.PubMedCrossRef
53.
Aitken RJ. The Amoroso lecture: the human spermatozoon—a cell in crisis? J Reprod Fertil. 1999;115(1):1–7.PubMedCrossRef
54.
Agarwal A, Saleh RA, Bedaiwy MA. Role of reactive oxygen species in the pathophysiology of human reproduction. Fertil Steril. 2003;79(4):829–43.PubMedCrossRef
55.
Aitken RJ, Clarkson JS, Fishel S. Generation of reactive oxygen species, lipid peroxidation, and human sperm function. Biol Reprod. 1989;41(1):183–97.PubMedCrossRef
56.
57.
Howard J. Sickle cell disease: when and how to transfuse. Hematol Am Soc Hematol Educ Program. 2016;2016(1):625–31.CrossRef
58.
Swerdlow PS. Red cell exchange in sickle cell disease. Hematol Am Soc Hematol Educ Program. 2006;2006:48–53.CrossRef
59.
John MJ, et al. Cost effectiveness of hematopoietic stem cell transplantation compared with transfusion chelation for treatment of thalassemia major. Biol Blood Marrow Transplant. 2018;24(10):2119–26.PubMedCrossRef
60.
Borgna-Pignatti C, Gamberini MR. Complications of thalassemia major and their treatment. Expert Rev Hematol. 2011;4(3):353–66.PubMedCrossRef
61.
De Sanctis V, et al. Hypogonadism in male thalassemia major patients: pathophysiology, diagnosis and treatment. Acta Bio Medica: Atenei Parmensis. 2018;89(Suppl 2):6.PubMed
62.
Patrinos GP, Grosveld FG. Pharmacogenomics and therapeutics of hemoglobinopathies. Hemoglobin. 2008;32(1–2):229–36.PubMedCrossRef
63.
Kargutkar N, Nadkarni A. Effect of hydroxyurea on erythrocyte apoptosis in hemoglobinopathy patients. Expert Rev Hematol. 2023;16(9):685–92.PubMedCrossRef
64.
Yasara N, Premawardhena A, Mettananda S. A comprehensive review of hydroxyurea for beta-haemoglobinopathies: the role revisited during COVID-19 pandemic. Orphanet J Rare Dis. 2021;16(1):114.PubMedPubMedCentralCrossRef
65.
Naik RP, Lanzkron S. Pregnancy in subjects with hemoglobinopathies: Precautions and management. In: Nonmalignant hematology: expert clinical review: questions and answers. Springer; 2016. p. 661–8.CrossRef
66.
Mukherjee M, et al. Revisiting fetal hemoglobin inducers in beta-hemoglobinopathies: a review of natural products, conventional and combinatorial therapies. Mol Biol Rep. 2022;49(3):2359–73.PubMedCrossRef
67.
68.
Review S. Hydroxyurea for the treatment of adults with sickle cell disease. Ann Intern Med. 2008;148(12):939–55.CrossRef
69.
Soliman AT, Alaaraj N. and M Yassin, The effects of treatment with blood transfusion, iron chelation and hydroxyurea on puberty, growth and spermatogenesis in sickle cell disease (SCD): a short update. Acta Bio Med: Atenei Parm. 2021;92(4): e2021386.
70.
De Sanctis V, Soliman A, Mohamed Y. Reproductive health in young male adults with chronic diseases in childhood. Pediatr Endocrinol Rev. 2013;10(3):284–96.PubMed
71.
Shander A, Cappellini M, Goodnough L. Iron overload and toxicity: the hidden risk of multiple blood transfusions. Vox Sang. 2009;97(3):185–97.PubMedCrossRef
72.
Pinto VM, et al. Sickle cell disease: a review for the internist. Intern Emerg Med. 2019;14:1051–64.PubMedCrossRef
73.
Anie KA, Egunjobi FE, Akinyanju OO. Psychosocial impact of sickle cell disorder: perspectives from a Nigerian setting. Glob Health. 2010;6:1–6.CrossRef
74.
Chaturvedi S, DeBaun MR. Evolution of sickle cell disease from a life-threatening disease of children to a chronic disease of adults: the last 40 years. Am J Hematol. 2016;91(1):5–14.PubMedCrossRef
75.
Alao A, et al. Psychopathology in sickle cell disease. West Afr J Med. 2003;22(4):334–7.PubMed
Metadata
Title
Relationship between hemoglobinopathies and male infertility: a scoping review
Authors
Abdullah M. Al-Jubouri
Ahmed Eliwa
Yunes Haithm
Noof Al-Qahtani
Lolwa Jolo
Mohamed Yassin
Publication date
27-09-2024
Publisher
Springer Nature Singapore
Published in
International Journal of Hematology
Print ISSN: 0925-5710
Electronic ISSN: 1865-3774
DOI
https://doi.org/10.1007/s12185-024-03844-7

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